New missense mutation in the human ferrochelatase gene in a family with erythropoietic protoporphyria: Functional studies and correlation of genotype and phenotype

Clinical Chemistry

Volumn 47, Issue 6 I, 2001, Pages 1112-1113

  Rufenacht S ^a   Gregor, A ^a   Gouya, L ^a   Tarczynska Nosal, S ^a   Schneider Yin, X ^a   Deybach, J C ^a  

^a TRIEMLI HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

FERROCHELATASE;

ALLELE; ARTICLE; BLOOD SAMPLING; CLINICAL FEATURE; CORRELATION FUNCTION; ENZYME ACTIVITY; ENZYME DEFICIENCY; ERYTHROPOIETIC PROTOPORPHYRIA; FAMILY STUDY; GENOTYPE; HUMAN; MISSENSE MUTATION; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 0034997767     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/47.6.1112     Document Type: Article

References (5)

1. Erythropoietic protoporphyria
2. Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria
3. New insights into the pathogenesis of erythropoietic protoporphyria and their impacts on patient care
4. Inheritance in erythropoietic protoporphyria: A common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation
5. An HPLC assay for rat liver ferrochelatase activity